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Article

Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.

Genome medicine - 20 Aug 2025

Kim Soo-Whee, Lee Hyeji, Song Da Yea, Lee Gang-Hee, Han Jae Hyun, Lee Jee Won, Byun Hee Jung, Son Ji Hyun, Kim Ye Rim, Lee Yoojeong, Kim Eunjoon, Werling Donna M, Kim So Hyun, Sanders Stephan J, Yoo Hee Jeong, An Joon-Yong

Abstract excerpt

BACKGROUND: The phenotypic outcomes of de novo variants (DNVs) in autism spectrum disorder (ASD) exhibit wide variability. To date, no study has comprehensively estimated DNV effects accounting for familial phenotypic background. METHODS: To evaluate DNV effects in a family-relative context, we defined within-family standardized deviations (WFSD) by subtracting phenotype scores of unaffected family members and...

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Identifiers

PMID: 40836247
DOI: 10.1186/s13073-025-01532-7
PMCID: PMC12366145

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